Reviewed,
UniProtKB/Swiss-Prot P13498 (CY24A_HUMAN)
Last modified
November 25, 2008.
Version 90.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Cytochrome b-245 light chain Alternative name(s): p22 phagocyte B-cytochrome Neutrophil cytochrome b 22 kDa polypeptide p22-phox Short name=p22phox Cytochrome b(558) alpha chain Cytochrome b558 subunit alpha Superoxide-generating NADPH oxidase light chain subunit | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 195 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide. |
| Subunit structure | Composed of a heavy chain (beta) and a light chain (alpha). Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4. |
| Subcellular location | MembranePotential. |
| Involvement in disease | Defects in CYBA are a cause of autosomal recessive chronic granulomatous disease (AR-CGD) [MIM:233690]. AR-CGD is characterized by the failure of activated phagocytes to generate superoxide. |
| Miscellaneous | The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245. |
| Sequence similarities | Belongs to the p22phox family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed | ||||||||
| Chain | 2 – 195 | 194 | Cytochrome b-245 light chain | PRO_0000144907 | |||||||
Sites | |||||||||||
| Metal binding | 94 | 1 | Iron (heme axial ligand) Potential | ||||||||
Natural variations | |||||||||||
| Natural variant | 24 | 1 | G → R in AR-CGD. | VAR_012755 | |||||||
| Natural variant | 72 | 1 | H → Y: dbSNP rs4673. | VAR_005122 | |||||||
| Natural variant | 90 | 1 | R → Q in AR-CGD. | VAR_005123 | |||||||
| Natural variant | 94 | 1 | H → R in AR-CGD. | VAR_005124 | |||||||
| Natural variant | 118 | 1 | S → R in AR-CGD. | VAR_005125 | |||||||
| Natural variant | 156 | 1 | P → Q in AR-CGD. | VAR_005126 | |||||||
Experimental info | |||||||||||
| Mutagenesis | 157 | 1 | P → Q: Loss of interaction with NOXO1 | ||||||||
Secondary structure | |||||||||||
Helix Strand Turn | |||||||||||
| Helix | 161 – 165 | 5 | |||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b." Parkos C.A., Dinauer M.C., Walker L.E., Allen R.A., Jesaitis A.J., Orkin S.H. Proc. Natl. Acad. Sci. U.S.A. 85:3319-3323(1988) [PubMed: 3368442] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 2-26. |
| [2] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT TYR-72. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [4] | "Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease." Dinauer M.C., Pierce E.A., Bruns G.A.P., Curnutte J.T., Orkin S.H. J. Clin. Invest. 86:1729-1737(1990) [PubMed: 2243141] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 12-123, VARIANT AR-CGD ARG-118. |
| [5] | "Characterization of two monoclonal antibodies against cytochrome b558 of human neutrophils." Verhoeven A.J., Bolscher B.G., Meerhof L.J., van Zwieten R., Keijer J., Weening R.S., Roos D. Blood 73:1686-1694(1989) [PubMed: 2469497] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 51-195. |
| [6] | "Novel human homologues of p47phox and p67phox participate in activation of superoxide-producing NADPH oxidases." Takeya R., Ueno N., Kami K., Taura M., Kohjima M., Izaki T., Nunoi H., Sumimoto H. J. Biol. Chem. 278:25234-25246(2003) [PubMed: 12716910] [Abstract] Cited for: INTERACTION WITH NOXO1, MUTAGENESIS OF PRO-157. |
| [7] | "Identification of a novel partner of duox: EFP1, a thioredoxin-related protein." Wang D., De Deken X., Milenkovic M., Song Y., Pirson I., Dumont J.E., Miot F. J. Biol. Chem. 280:3096-3103(2005) [PubMed: 15561711] [Abstract] Cited for: INTERACTION WITH DUOX1; DUOX2 AND TPO. |
| [8] | "The NADPH oxidase Nox3 constitutively produces superoxide in a p22phox-dependent manner: its regulation by oxidase organizers and activators." Ueno N., Takeya R., Miyano K., Kikuchi H., Sumimoto H. J. Biol. Chem. 280:23328-23339(2005) [PubMed: 15824103] [Abstract] Cited for: FUNCTION. |
| [9] | "Functional analysis of Nox4 reveals unique characteristics compared to other NADPH oxidases." Martyn K.D., Frederick L.M., von Loehneysen K., Dinauer M.C., Knaus U.G. Cell. Signal. 18:69-82(2006) [PubMed: 15927447] [Abstract] Cited for: INTERACTION WITH NOX4. |
| [10] | "Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox)." de Boer M., de Klein A., Hossle J.-P., Seger R., Corbeel L., Weening R.S., Roos D. Am. J. Hum. Genet. 51:1127-1135(1992) [PubMed: 1415254] [Abstract] Cited for: VARIANTS AR-CGD GLN-90 AND ARG-94. |
| [11] | "Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease." Dinauer M.C., Pierce E.A., Erickson R.W., Muhlebach T.J., Messner H., Orkin S.H., Seger R.A., Curnutte J.T. Proc. Natl. Acad. Sci. U.S.A. 88:11231-11235(1991) [PubMed: 1763037] [Abstract] Cited for: VARIANT AR-CGD GLN-156. |
| [12] | "156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox." Leusen J.H., Bolscher B.G., Hilarius P.M., Weening R.S., Kaulfersch W., Seger R.A., Roos D., Verhoeven A.J. J. Exp. Med. 180:2329-2334(1994) [PubMed: 7964505] [Abstract] Cited for: CHARACTERIZATION OF VARIANT AR-CGD GLN-156. |
| [13] | "Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients." Yamada M., Ariga T., Kawamura N., Ohtsu M., Imajoh-Ohmi S., Ohshika E., Tatsuzawa O., Kobayashi K., Sakiyama Y. Br. J. Haematol. 108:511-517(2000) [PubMed: 10759707] [Abstract] Cited for: VARIANT AR-CGD ARG-24. |
| + | Additional computationally mapped references. |
Web resources
| CYBAbase CYBA mutation db |
| GeneReviews |
| SHMPD The Singapore human mutation and polymorphism database |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M21186 mRNA. Translation: AAA90925.1. BT006861 mRNA. Translation: AAP35507.1. BC006465 mRNA. Translation: AAH06465.1. M62818 M61107 Genomic DNA. Translation: AAA52134.1. | |||||||||||||
| PIR | A28201. | ||||||||||||
| RefSeq | NP_000092.2. | ||||||||||||
| UniGene | Hs.513803 | ||||||||||||
3D structure databases | |||||||||||||
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| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | P13498. | ||||||||||||
Proteomic databases | |||||||||||||
| PeptideAtlas | P13498. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000051523. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 1535. | ||||||||||||
| KEGG | hsa:1535. | ||||||||||||
Organism-specific databases | |||||||||||||
| H-InvDB | HIX0013335. | ||||||||||||
| HGNC | HGNC:2577. CYBA. | ||||||||||||
| HPA | CAB009492. | ||||||||||||
| MIM | 233690. phenotype. 608508. gene. | ||||||||||||
| PharmGKB | PA27075. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
| GeneCards | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOGENOM | P13498. | ||||||||||||
| HOVERGEN | P13498. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P13498. | ||||||||||||
| CleanEx | HS_CYBA. | ||||||||||||
| GermOnline | ENSG00000051523. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR007732. Cytochr_b558a. [Graphical view] | ||||||||||||
| PANTHER | PTHR15168. Cytochr_b558a. 1 hit. | ||||||||||||
| Pfam | PF05038. Cytochrom_B558a. 1 hit. [Graphical view] | ||||||||||||
| PIRSF | PIRSF019635. Cytochr_b558a. 1 hit. | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 6349. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | CY24A_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P13498 Secondary accession number(s): Q14090, Q9BR72 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 16 Human chromosome 16: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |
| SIMILARITY comments Index of protein domains and families |

Clusters with


